This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystroph... See more...

Aliases for MBNL2 Gene

Aliases for MBNL2 Gene

  • Muscleblind Like Splicing Regulator 2 2 3 5
  • Muscleblind-Like Protein-Like 39 3 4
  • Muscleblind-Like Protein 1 3 4
  • Muscleblind-Like Protein 2 3 4
  • MBLL39 3 4
  • MBLL 3 4
  • Muscleblind-Like Splicing Regulator 2 2
  • Muscleblind-Like 2 (Drosophila) 2
  • Muscleblind-Like Protein-Like 4
  • Muscleblind-Like 2 3
  • PRO2032 3
  • MLP1 4

External Ids for MBNL2 Gene

Previous GeneCards Identifiers for MBNL2 Gene

  • GC13P092261
  • GC13P096711
  • GC13P095572
  • GC13P096672
  • GC13P097873
  • GC13P078471
  • GC13P097221

Summaries for MBNL2 Gene

Entrez Gene Summary for MBNL2 Gene

  • This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]

GeneCards Summary for MBNL2 Gene

MBNL2 (Muscleblind Like Splicing Regulator 2) is a Protein Coding gene. Diseases associated with MBNL2 include Myotonic Dystrophy and Myotonic Disease. An important paralog of this gene is MBNL1.

UniProtKB/Swiss-Prot Summary for MBNL2 Gene

  • Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).

Gene Wiki entry for MBNL2 Gene

Additional gene information for MBNL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBNL2 Gene

Genomics for MBNL2 Gene

GeneHancer (GH) Regulatory Elements for MBNL2 Gene

Promoters and enhancers for MBNL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J097218 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 506.7 +81.8 81830 9.4 FOXK2 ZBTB40 EP300 SIN3A POLR2G USF1 SP1 NCOR1 JUND TEAD4 MBNL2 OXGR1 RAP2A lnc-OXGR1-4 lnc-MBNL2-2
GH13J097140 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 505.8 +0.2 237 3.6 EP300 FOXK2 ZNF217 ZSCAN5C NRF1 TCF12 POLR2G NCOR1 GTF2E2 PHF8 MBNL2 lnc-MBNL2-1
GH13J097338 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.6 +198.6 198581 4.8 TCF12 TARDBP ZNF316 SRF PBX2 RBM22 NR2F2 NFE2 MAFK POLR2A MBNL2 piR-43105-149 RF00001-107 RNA5SP37
GH13J097262 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.7 +132.8 132781 22.8 TCF12 POLR2G NCOR1 JUND TEAD4 FOS KDM6A TCF7 FOXA1 SMARCC2 MBNL2 piR-58929-024 LOC101927385 ENSG00000286334
GH13J097325 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.4 +186.0 185980 5.2 TEAD4 REST RBM25 POLR2A NR2F2 NCOR1 CREB1 NFIC YY1 RBM22 MBNL2 OXGR1 piR-43105-149 RF00001-107 RNA5SP37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBNL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBNL2

Top Transcription factor binding sites by QIAGEN in the MBNL2 gene promoter:
  • deltaCREB
  • FOXF2
  • FOXO4
  • HFH-1
  • HOXA3
  • NF-1
  • Nkx6-1
  • Roaz
  • SRY

Genomic Locations for MBNL2 Gene

Genomic Locations for MBNL2 Gene
chr13:97,141,820-97,394,120
(GRCh38/hg38)
Size:
252,301 bases
Orientation:
Plus strand
chr13:97,873,688-98,046,374
(GRCh37/hg19)
Size:
172,687 bases
Orientation:
Plus strand

Genomic View for MBNL2 Gene

Genes around MBNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBNL2 Gene

Proteins for MBNL2 Gene

  • Protein details for MBNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZF2-MBNL2_HUMAN
    Recommended name:
    Muscleblind-like protein 2
    Protein Accession:
    Q5VZF2
    Secondary Accessions:
    • Q3SXY5
    • Q58F19
    • Q8NEV3
    • Q8TD82

    Protein attributes for MBNL2 Gene

    Size:
    373 amino acids
    Molecular mass:
    40518 Da
    Quaternary structure:
    • Interacts with ITGA3.

    Three dimensional structures from OCA and Proteopedia for MBNL2 Gene

    Alternative splice isoforms for MBNL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBNL2 Gene

Post-translational modifications for MBNL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MBNL2 Gene

Domains & Families for MBNL2 Gene

Gene Families for MBNL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MBNL2 Gene

Blocks:
  • Zn-finger, C-x8-C-x5-C-x3-H type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBNL2 Gene

GenScript: Design optimal peptide antigens:
  • MBNL2 protein (A0PJJ3_HUMAN)
  • cDNA, FLJ79493, highly similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA (A2A3S3_HUMAN)
  • cDNA FLJ57455, moderately similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA (B4E3F7_HUMAN)
  • Muscleblind-like protein-like 39 (MBNL2_HUMAN)
  • Zinc finger protein (O95205_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VZF2

UniProtKB/Swiss-Prot:

MBNL2_HUMAN :
  • Belongs to the muscleblind family.
Family:
  • Belongs to the muscleblind family.
genes like me logo Genes that share domains with MBNL2: view

Function for MBNL2 Gene

Molecular function for MBNL2 Gene

UniProtKB/Swiss-Prot Function:
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).

Phenotypes From GWAS Catalog for MBNL2 Gene

Gene Ontology (GO) - Molecular Function for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBNL2: view
genes like me logo Genes that share phenotypes with MBNL2: view

Animal Models for MBNL2 Gene

MGI Knock Outs for MBNL2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for MBNL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBNL2 Gene

Localization for MBNL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBNL2 Gene

Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts (PubMed:11929853).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBNL2 gene
Compartment Confidence
nucleus 4
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with MBNL2: view

Pathways & Interactions for MBNL2 Gene

PathCards logo

SuperPathways for MBNL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IDA 15257297
genes like me logo Genes that share ontologies with MBNL2: view

No data available for Pathways by source and SIGNOR curated interactions for MBNL2 Gene

Drugs & Compounds for MBNL2 Gene

No Compound Related Data Available

Transcripts for MBNL2 Gene

mRNA/cDNA for MBNL2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MBNL2

Alternative Splicing Database (ASD) splice patterns (SP) for MBNL2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
SP1:
SP2: -
SP3: - - -
SP4:
SP5: -
SP6: - -
SP7: - -

Relevant External Links for MBNL2 Gene

GeneLoc Exon Structure for
MBNL2

Expression for MBNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBNL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBNL2 Gene

This gene is overexpressed in Heart (30.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MBNL2 Gene



Protein tissue co-expression partners for MBNL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBNL2

SOURCE GeneReport for Unigene cluster for MBNL2 Gene:

Hs.657347

mRNA Expression by UniProt/SwissProt for MBNL2 Gene:

Q5VZF2-MBNL2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for MBNL2 Gene

  • Nervous system(4.9)
  • Muscle(2.6)
  • Heart(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with MBNL2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBNL2 Gene

Orthologs for MBNL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBNL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBNL2 31 30
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MBNL2 31 30
  • 94.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MBNL2 31 30
  • 93.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mbnl2 17 31 30
  • 93.05 (n)
rat
(Rattus norvegicus)
Mammalia Mbnl2 30
  • 92.86 (n)
oppossum
(Monodelphis domestica)
Mammalia MBNL2 31
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL2 31
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL2 31 30
  • 87.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBNL2 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbnl2 30
  • 84.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29374 30
zebrafish
(Danio rerio)
Actinopterygii mbnl2 31 30
  • 74.74 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4628 30
fruit fly
(Drosophila melanogaster)
Insecta mbl 31
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 71 (a)
OneToMany
Species where no ortholog for MBNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBNL2 Gene

ENSEMBL:
Gene Tree for MBNL2 (if available)
TreeFam:
Gene Tree for MBNL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBNL2: view image

Paralogs for MBNL2 Gene

Paralogs for MBNL2 Gene

(3) SIMAP similar genes for MBNL2 Gene using alignment to 5 proteins:

  • MBNL2_HUMAN
  • A0PJJ3_HUMAN
  • A2A3S3_HUMAN
  • B4E3F7_HUMAN
  • Q5JSC0_HUMAN
genes like me logo Genes that share paralogs with MBNL2: view

Variants for MBNL2 Gene

Additional dbSNP identifiers (rs#s) for MBNL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MBNL2 Gene

Variant ID Type Subtype PubMed ID
esv2531977 CNV insertion 19546169
esv27915 CNV loss 19812545
esv3333582 CNV duplication 20981092
esv3398856 CNV duplication 20981092
esv3633288 CNV loss 21293372
esv3633290 CNV loss 21293372
esv994781 CNV gain 20482838
nsv1038798 CNV gain 25217958
nsv1045777 CNV gain 25217958
nsv1138 CNV insertion 18451855
nsv1145690 CNV deletion 24896259
nsv513393 CNV insertion 21212237
nsv7246 OTHER inversion 18451855
nsv832694 CNV gain 17160897

Variation tolerance for MBNL2 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBNL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBNL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBNL2 Gene

Disorders for MBNL2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MBNL2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
myotonic disease
  • myotonic syndrome
myotonic dystrophy 1
  • md1
myotonic dystrophy 2
  • dm2
x-linked hereditary ataxia
- elite association - COSMIC cancer census association via MalaCards
Search MBNL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MBNL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MBNL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBNL2 Gene

Publications for MBNL2 Gene

  1. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. (PMID: 11929853) Fardaei M … Brook JD (Human molecular genetics 2002) 2 3 4 23 54
  2. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. (PMID: 21529783) Heath AC … Montgomery GW (Biological psychiatry 2011) 3 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PMID: 19095965) Holt I … Morris GE (The American journal of pathology 2009) 3 23 54
  5. Solution structure of the RNA binding domain in the human muscleblind-like protein 2. (PMID: 19177353) He F … Yokoyama S (Protein science : a publication of the Protein Society 2009) 3 4 54

Products for MBNL2 Gene

Sources for MBNL2 Gene